Ontology highlight
ABSTRACT:
SUBMITTER: Kolvenbach CM
PROVIDER: S-EPMC8595524 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Kolvenbach Caroline M CM van der Ven Amelie T AT Kause Franziska F Shril Shirlee S Scala Marcello M Connaughton Dervla M DM Mann Nina N Nakayama Makiko M Dai Rufeng R Kitzler Thomas M TM Schneider Ronen R Schierbaum Luca L Schneider Sophia S Accogli Andrea A Torella Annalaura A Piatelli Gianluca G Nigro Vincenzo V Capra Valeria V Hoppe Bernd B Märzheuser Stefanie S Schmiedeke Eberhard E Rehm Heidi L HL Mane Shrikant S Lifton Richard P RP Dworschak Gabriel C GC Hilger Alina C AC Reutter Heiko H Hildebrandt Friedhelm F
American journal of medical genetics. Part A 20210802 12
The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL i ...[more]